Hypoplastic tibiae - postaxial polydactyly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
TIBIAL HEMIMELIA-POLYDACTYLY-TRIPHALANGEAL THUMBS WITH FIBULAR DIMELIA Werner mesomelic syndrome |
| Number of Symptoms | 25 |
| OrphanetNr: | 3332 |
| OMIM Id: |
188770
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| ICD-10: |
Q74.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Dysostosis with combined reduction defects of upper and lower limbs
-Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0000437) | Depressed nasal tip | 17 / 7739 | ||||
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(HPO:0000430) | Underdeveloped nasal alae | 90 / 7739 | ||||
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(HPO:0000436) | Abnormality of the nasal tip | Occasional [Orphanet] | 18 / 7739 | |||
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(HPO:0002991) | Abnormality of the fibula | Very frequent [Orphanet] | 49 / 7739 | |||
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(HPO:0002992) | Abnormality of the tibia | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0009601) | Aplasia/Hypoplasia of the thumb | Occasional [Orphanet] | 80 / 7739 | |||
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(HPO:0010503) | Fibular duplication | 2 / 7739 | ||||
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(HPO:0006487) | Bowing of the long bones | Very frequent [Orphanet] | 95 / 7739 | |||
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(HPO:0002974) | Radioulnar synostosis | 52 / 7739 | ||||
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(HPO:0100490) | Camptodactyly of finger | Occasional [Orphanet] | 212 / 7739 | |||
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(HPO:0001159) | Syndactyly | 140 / 7739 | ||||
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(HPO:0010442) | Polydactyly | 69 / 7739 | ||||
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(HPO:0006101) | Finger syndactyly | Very frequent [Orphanet] | 198 / 7739 | |||
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(HPO:0001177) | Preaxial hand polydactyly | Frequent [Orphanet] | 59 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Occasional [Orphanet] | 322 / 7739 | |||
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(HPO:0004209) | Clinodactyly of the 5th finger | Very frequent [Orphanet] | 288 / 7739 | |||
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(HPO:0001162) | Postaxial hand polydactyly | Very frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0004322) | Short stature | Occasional [Orphanet] | 1232 / 7739 | |||
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(OMIM) | Nonopposable thumb | 2 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Thickened fibula | 1 / 7739 | ||||
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(OMIM) | Duplicated fibula | 1 / 7739 | ||||
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(OMIM) | Depressed nasal tip due to major alar cartilage hypoplasia | 1 / 7739 | ||||
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(OMIM) | Tibial hypoplasia | 3 / 7739 | ||||
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(HPO:0001199) | Triphalangeal thumb | Occasional [Orphanet] | 56 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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